Abstract:
Intellectual disability, a neuro-developmental disease, affects a person's cognitive abilitiesand ultimately lead to learning disability. The disorder is manifested by impairment in adaptive skills, and low IQ level. Globally, it affects 1-3% of general population. It might be caused by genetic defects or environmental factors. Herein the present report, a family from District Swat, Khyber Pakhtoonkhwah, was recruited for genetic mapping of disease gene. The family belonged to a Pashtoon tribe. The patients were suffering from moderate to severe mental retardation with hyperactive behavior. Whole exome analysis in this family determined a homozygous missensevariant NM_001105539:c. A1760G (p.Asp587Ser) in the 2ndexon of ZBTB10 gene. Zinc finger and BTB domain containing 10 (ZBTB10) is a gene having 5 transcripts all these transcripts are gene coding, whereas the smallest transcript is comprised of 579 amino acids and the largest one consists of 871 amino acids. This gene is present on chromosome 8 and it maps to 80,485,619- 80,526,265 according to GRCH38 coordinates. Human ZBTB10 gene consists of an atypical zincfinger, a BTB domain, and 2 classical C2H2 zinc-fingers. ZBTB10 is also important for DC activation, and its reduction in cDC1 entirely stops their immunological responses
Page(s):
229-229
DOI:
DOI not available
Published:
Journal: Abstract Book on International Conference on Food and Applied Sciences (ICFAS-23) 3-5 August 23, Volume: 0, Issue: 0, Year: 2023
Keywords:
intellectual disability
,
Mental Retardation
,
ZBTB10
,
genetic defects
,
hyper active behavior